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ASIC1 acid sensing ion channel subunit 1 [ Homo sapiens (human) ]

Gene ID: 41, updated on 3-Nov-2024

Summary

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Official Symbol
ASIC1provided by HGNC
Official Full Name
acid sensing ion channel subunit 1provided by HGNC
Primary source
HGNC:HGNC:100
See related
Ensembl:ENSG00000110881 MIM:602866; AllianceGenome:HGNC:100
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASIC; ACCN2; BNaC2
Summary
This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
Expression
Biased expression in brain (RPKM 17.4), prostate (RPKM 1.9) and 3 other tissues See more
Orthologs
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Genomic context

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See ASIC1 in Genome Data Viewer
Location:
12q13.12
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (50057596..50083622)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (50020656..50046680)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50451379..50477394)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369764 Neighboring gene aquaporin 6 Neighboring gene Rac GTPase activating protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6338 Neighboring gene Sharpr-MPRA regulatory region 11175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50433443-50434198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50434199-50434954 Neighboring gene CRISPRi-validated cis-regulatory element chr12.1559 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:50444767-50445695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6341 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:50474871-50475040 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50477618-50478350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50479817-50480548 Neighboring gene SWI/SNF related BAF chromatin remodeling complex subunit D1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6343 Neighboring gene glycerol-3-phosphate dehydrogenase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Direct visualization of the trimeric structure of the ASIC1a channel, using AFM imaging. Carnally SM, et al. Biochem Biophys Res Commun, 2008 Aug 8. PMID 18514062
  2. ASIC1a activation induces calcium-dependent apoptosis of BMSCs under conditions that mimic the acidic microenvironment of the degenerated intervertebral disc. Cai F, et al. Biosci Rep, 2019 Nov 29. PMID 31696219, Free PMC Article
  3. Ligand Docking to the Acidic Pocket of the Proton-Gated Ion Channel Asic1A. Korkosh VS, et al. Dokl Biochem Biophys, 2019 Mar. PMID 31201627
  4. A valve-like mechanism controls desensitization of functional mammalian isoforms of acid-sensing ion channels. Wu Y, et al. Elife, 2019 May 2. PMID 31045491, Free PMC Article
  5. Involvement of acid-sensing ion channel 1a in gastric carcinoma cell migration and invasion. Chen X, et al. Acta Biochim Biophys Sin (Shanghai), 2018 May 1. PMID 29584803

See all (121) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ASIC1/RIP1 accelerates atherosclerosis via disrupting lipophagy.
    Title: ASIC1/RIP1 accelerates atherosclerosis via disrupting lipophagy.
  2. Functional expression of the proton sensors ASIC1a, TMEM206, and OGR1 together with BKCa channels is associated with cell volume changes and cell death under strongly acidic conditions in DAOY medulloblastoma cells.
    Title: Functional expression of the proton sensors ASIC1a, TMEM206, and OGR1 together with BK(Ca) channels is associated with cell volume changes and cell death under strongly acidic conditions in DAOY medulloblastoma cells.
  3. Glutamate acts on acid-sensing ion channels to worsen ischaemic brain injury.
    Title: Glutamate acts on acid-sensing ion channels to worsen ischaemic brain injury.
  4. ASIC1a promotes acidic microenvironment-induced HCC cells migration and invasion by inducing autophagy.
    Title: ASIC1a promotes acidic microenvironment-induced HCC cells migration and invasion by inducing autophagy.
  5. ASIC1 promotes migration and invasion of hepatocellular carcinoma via the PRKACA/AP-1 signaling pathway.
    Title: ASIC1 promotes migration and invasion of hepatocellular carcinoma via the PRKACA/AP-1 signaling pathway.
  6. ASIC1a involves the acid-mediated activation of pancreatic stellate cells associated with autophagy induction.
    Title: ASIC1a involves the acid-mediated activation of pancreatic stellate cells associated with autophagy induction.
  7. ASIC1a stimulates the resistance of human hepatocellular carcinoma by promoting EMT via the AKT/GSK3beta/Snail pathway driven by TGFbeta/Smad signals.
    Title: ASIC1a stimulates the resistance of human hepatocellular carcinoma by promoting EMT via the AKT/GSK3β/Snail pathway driven by TGFβ/Smad signals.
  8. Regulation of gliomagenesis and stemness through acid sensor ASIC1a.
    Title: Regulation of gliomagenesis and stemness through acid sensor ASIC1a.
  9. Upregulation of acid sensing ion channels is associated with esophageal hypersensitivity in GERD.
    Title: Upregulation of acid sensing ion channels is associated with esophageal hypersensitivity in GERD.
  10. Therapeutic Inhibition of Acid-Sensing Ion Channel 1a Recovers Heart Function After Ischemia-Reperfusion Injury.
    Title: Therapeutic Inhibition of Acid-Sensing Ion Channel 1a Recovers Heart Function After Ischemia-Reperfusion Injury.
Submit: New GeneRIF Correction See all GeneRIFs (89)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ligand-gated sodium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables monoatomic ion-gated channel activity IEA
Inferred from Electronic Annotation
more info
  
enables pH-gated monoatomic ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT enables pH-gated monoatomic ion channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables pH-gated monoatomic ion channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables pH-gated monoatomic ion channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in associative learning IEA
Inferred from Electronic Annotation
more info
  
involved_in behavioral fear response IEA
Inferred from Electronic Annotation
more info
  
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to pH IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in memory IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in protein homotrimerization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of membrane potential IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of postsynapse assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in response to acidic pH IEA
Inferred from Electronic Annotation
more info
  
involved_in response to amphetamine IEA
Inferred from Electronic Annotation
more info
  
involved_in sensory perception of sour taste IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sodium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sodium ion transport NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in cell surface IEA
Inferred from Electronic Annotation
more info
  
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in postsynaptic density membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in postsynaptic density membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in presynapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
acid-sensing ion channel 1
Names
Cation channel, amiloride-sensitive, neuronal, 2
acid sensing (proton gated) ion channel 1
acid-sensing ion channel 1a protein
amiloride-sensitive cation channel 2, neuronal
brain sodium channel 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001095.4 → NP_001086.2  acid-sensing ion channel 1 isoform b

    See identical proteins and their annotated locations for NP_001086.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a. Variants 2 and 6 both encode the same isoform (b).
    Source sequence(s)
    AC025154
    Consensus CDS
    CCDS44876.1
    UniProtKB/Swiss-Prot
    A3KN86, E5KBL7, P78348, P78349, Q96CV2
    UniProtKB/TrEMBL
    A8K1U5
    Related
    ENSP00000400228.3, ENST00000447966.7
    Conserved Domains (1) summary
    TIGR00859
    Location:19 → 510
    ENaC; sodium channel transporter

  2. NM_001256830.2 → NP_001243759.1  acid-sensing ion channel 1 isoform c

    See identical proteins and their annotated locations for NP_001243759.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also uses an alternate, in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC025154
    Consensus CDS
    CCDS58228.1
    UniProtKB/Swiss-Prot
    P78348
    Related
    ENSP00000450247.1, ENST00000552438.5
    Conserved Domains (1) summary
    cl02990
    Location:64 → 544
    ASC; Amiloride-sensitive sodium channel

  3. NM_001412756.1 → NP_001399685.1  acid-sensing ion channel 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC025154

  4. NM_001412757.1 → NP_001399686.1  acid-sensing ion channel 1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC025154
    UniProtKB/Swiss-Prot
    A3KN86, E5KBL7, P78348, P78349, Q96CV2

  5. NM_001412758.1 → NP_001399687.1  acid-sensing ion channel 1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC025154

  6. NM_001412759.1 → NP_001399688.1  acid-sensing ion channel 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC025154

  7. NM_001412760.1 → NP_001399689.1  acid-sensing ion channel 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC025154

  8. NM_001412761.1 → NP_001399690.1  acid-sensing ion channel 1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC025154
    Related
    ENSP00000402896.3, ENST00000453327.7

  9. NM_001412762.1 → NP_001399691.1  acid-sensing ion channel 1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC025154

  10. NM_020039.4 → NP_064423.2  acid-sensing ion channel 1 isoform a

    See identical proteins and their annotated locations for NP_064423.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC025154
    Consensus CDS
    CCDS8796.1
    UniProtKB/TrEMBL
    A8K1U5
    Related
    ENSP00000228468.4, ENST00000228468.8
    Conserved Domains (1) summary
    TIGR00859
    Location:19 → 556
    ENaC; sodium channel transporter

RNA

  1. NR_046389.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate internal exon and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC025154
    Related
    ENST00000550558.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    50057596..50083622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538350.2 → XP_011536652.1  acid-sensing ion channel 1 isoform X1

    UniProtKB/TrEMBL
    A8K1U5
    Conserved Domains (1) summary
    TIGR00859
    Location:19 → 542
    ENaC; sodium channel transporter

  2. XM_011538352.2 → XP_011536654.1  acid-sensing ion channel 1 isoform X2

    See identical proteins and their annotated locations for XP_011536654.1

    UniProtKB/TrEMBL
    A8K1U5
    Conserved Domains (1) summary
    TIGR00859
    Location:19 → 511
    ENaC; sodium channel transporter

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    50020656..50046680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372055.1 → XP_054228030.1  acid-sensing ion channel 1 isoform X1

  2. XM_054372056.1 → XP_054228031.1  acid-sensing ion channel 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P78348.3 GenPept UniProtKB/Swiss-Prot:P78348

Gene LinkOut

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